Valerie Malan

Valerie Malan

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Valerie Malan

Valerie Malan

Publications by authors named "Valerie Malan"

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Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.

Prenat Diagn 2019 Sep 5;39(10):871-882. Epub 2019 Jul 5.

Fédération de Génétique, Centre Hospitalier Intercommunal Poissy-St-Germain-en-Laye, Poissy, France.

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http://dx.doi.org/10.1002/pd.5498DOI Listing
September 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 Aug 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Women's Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome.

JAMA Netw Open 2019 Mar 1;2(3):e191062. Epub 2019 Mar 1.

Department of Obstetrics and Gynecology, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1001/jamanetworkopen.2019.1062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450316PMC
March 2019

Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.

Am J Med Genet A 2018 09 4;176(9):1981-1984. Epub 2018 Sep 4.

Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.40375
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http://dx.doi.org/10.1002/ajmg.a.40375DOI Listing
September 2018

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Eur J Hum Genet 2018 06 26;26(6):912-918. Epub 2018 Feb 26.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants-Malades, Université Paris Descartes, 149, rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1038/s41431-018-0124-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974246PMC
June 2018

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.

Birth Defects Res 2017 Nov 31;109(19):1586-1595. Epub 2017 Jul 31.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP, Paris, France.

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http://dx.doi.org/10.1002/bdr2.1093DOI Listing
November 2017

Efficiency of prenatal diagnosis in Pierre Robin sequence.

Prenat Diagn 2017 Nov 26;37(11):1169-1175. Epub 2017 Oct 26.

Paris Descartes-Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1002/pd.5162DOI Listing
November 2017

Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication.

Cytogenet Genome Res 2017 9;151(3):115-118. Epub 2017 Mar 9.

Service de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1159/000460278DOI Listing
September 2017

Clinical and neuroradiological features of the 9p deletion syndrome.

Childs Nerv Syst 2016 Feb 23;32(2):327-35. Epub 2015 Nov 23.

Department of Pediatric Neurosurgery, Craniofacial Unit, Necker Enfants Malades Hospital, 156 rue de Vaugirard, 75015, Paris, France.

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http://dx.doi.org/10.1007/s00381-015-2957-2DOI Listing
February 2016

First fetal case of the 8q24.3 contiguous genes syndrome.

Am J Med Genet A 2016 Jan 5;170A(1):239-42. Epub 2015 Oct 5.

Department of Histology-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37411DOI Listing
January 2016

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

Am J Hum Genet 2015 Nov;97(5):691-707

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297150040
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http://dx.doi.org/10.1016/j.ajhg.2015.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667131PMC
November 2015

17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.

Cytogenet Genome Res 2014 15;144(3):178-82. Epub 2014 Nov 15.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1159/000369117DOI Listing
April 2015

High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymes.

J Clin Endocrinol Metab 2014 Aug 14;99(8):E1592-6. Epub 2014 Apr 14.

Unité d'Hépatologie (D.R.), Groupe Hospitalier Paris-Seine-St Denis, Hôpital Avicenne, Assistance Publique-Hôpitaux de Paris, 93000 Bobigny, France; Service d'Hépato-Gastroentérologie (V.B., M.B.), Service d'Anatomo-Pathologie (M.Z.), and Service d'Histologie-Embryologie et Cytogénétique, Biologie de la Reproduction (B.B.), Groupe Hospitalier Paris-Seine-St Denis, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, 93143 Bondy, France; Université Paris 13, Sorbonne Paris Cité (D.R., M.Z., M.B., B.B.), 93000 Bobigny, France; Département de Génétique (V.M.), Université Paris Descartes, INSERM Unité 781, Hopital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75014 Paris, France; Service d'Endocrinologie et Diabétologie de l'Enfant (A.L.), Groupe Hospitalier Paris Sud, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, and Université Paris Sud, INSERM Unité 936, 94270 Le Kremlin-Bicêtre, France.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2014-1037DOI Listing
August 2014

Mutations in SETD2 cause a novel overgrowth condition.

J Med Genet 2014 Aug 22;51(8):512-7. Epub 2014 May 22.

INSERM UMR_1163, Département de génétique, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2014-102402DOI Listing
August 2014

FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease.

Cardiol Young 2013 Oct 21;23(5):697-704. Epub 2013 Jan 21.

Department of Pediatric Cardiology, Centre de Référence Malformations cardiaques Congénitales Complexes-M3C, Hôpital Necker-Enfants-Malades, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1017/S1047951112001904DOI Listing
October 2013

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

Am J Med Genet A 2013 Jun 1;161A(6):1370-5. Epub 2013 May 1.

Université Paris Descartes, INSERM U 781 & Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35307DOI Listing
June 2013

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

Eur J Hum Genet 2013 Feb 18;21(2):195-9. Epub 2012 Jul 18.

INSERM U781, Département de Génétique et de Radiologie Pédiatrique, Fondation IMAGINE, Université Paris Descartes, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2012.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548256PMC
February 2013

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

Mol Genet Metab 2012 Dec 22;107(4):700-4. Epub 2012 Oct 22.

Assistance Publique-Hôpitaux de Paris, Services de Génétique, de Cytogénétique et de Maladies Métaboliques, Hôpital Necker-Enfants Malades, 149, rue de Sèvres 75743 Paris cedex 15, France.

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http://dx.doi.org/10.1016/j.ymgme.2012.10.008DOI Listing
December 2012

Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis.

J Pediatr Gastroenterol Nutr 2010 Apr;50(4):447-9

Pediatric Hepatology, National Reference Centre for Biliary Atresia, INSERM 757, France.

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http://dx.doi.org/10.1097/MPG.0b013e3181cd2725DOI Listing
April 2010

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Eur J Hum Genet 2010 Mar 21;18(3):285-90. Epub 2009 Oct 21.

Département de Génétique, Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2009.159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987214PMC
March 2010

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood.

Pediatrics 2008 Aug 14;122(2):e376-82. Epub 2008 Jul 14.

National Institute of Health and Medical Research and Department of Genetics, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1542/peds.2007-2584DOI Listing
August 2008

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia.

Prenat Diagn 2008 Jan;28(1):69-71

Service de Cytogénétique et d'Embryologie, Hôpital Necker-Enfants Malades, AP-HP, Paris, Université Paris Descartes, Paris V, France.

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http://dx.doi.org/10.1002/pd.1911DOI Listing
January 2008

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.

Hum Reprod 2007 Apr 1;22(4):1037-41. Epub 2007 Feb 1.

Service de Cytogénétique, University René Descartes-Paris 5, Paris, France.

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http://dx.doi.org/10.1093/humrep/del480DOI Listing
April 2007